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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **10876 - 10900** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0060469	Miller-Dieker lissencephaly syndrome Aliases: MDS Miller-Dieker syndrome	Mnt Ywhae	17428 22627	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111072	myostatin-related muscle hypertrophy Aliases: MSLHP	Mstn	17700	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080762	autosomal recessive limb-girdle muscular dystrophy type 2Z Aliases: limb-girdle muscular dystrophy 21	Poglut1	224143	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111997	immunodeficiency 63 Aliases: IL2RB deficiency IMD63 immunodeficiency 63 with lymphoproliferation and autoimmunity	Il2rb	16185	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081301	intellectual developmental disorder with ocular anomalies and distinctive facial features Aliases: IDDOF MTSS2-related neurodevelopmental disorder	Mtss1 Mtss2	211401 244654	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111454	SHORT syndrome Aliases: Aarskog-Ose-Pande syndrome Lipodystrophy-Rieger anomaly-diabetes syndrome Rieger anomaly-partial lipodystrophy syndrome short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay	Pik3r1	18708	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10211	cholelithiasis	Cckar Cftr Ugt1a1	12425 12638 394436	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081215	autosomal recessive intellectual developmental disorder 52	Lman2l	214895	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070494	mitochondrial complex IV deficiency nuclear type 7 Aliases: MC4DN7	Cox6b1	110323	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1390	hypobetalipoproteinemia Aliases: Hypo-beta-lipoproteinemia	Apob Pcsk9	100102 238055	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111241	congenital muscular dystrophy-dystroglycanopathy type A5 Aliases: MDDGA5 Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5	Fkrp	243853	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13166	allergic bronchopulmonary aspergillosis Aliases: pulmonary aspergillus disease	Cftr H2-Ab1 H2-Eb1 Mbl2 Tlr9 Tnfrsf1a	12638 14961 14969 17195 21937 81897	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2559	opiate dependence Aliases: Opioid type dependence	Abcb1a Abcb1b Akt1 Ankk1 Bdnf Bmper C9 Comt Drd2 Ngf Npy1r Oprd1 Oprk1 Oprm1 Vegfa	11651 12064 12279 12846 13489 18049 18166 18386 18387 18390 18669 18671 22339 244859 73230	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080653	urolithiasis	Ggcx	56316	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080948	agenesis of corpus callosum, cardiac, ocular, and genital syndrome	Cdh2	12558	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111277	mitochondrial trifunctional protein deficiency Aliases: MTPD TFP deficiency TFPD	Hadha	97212	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4378	peanut allergy Aliases: allergy to peanuts peanut allergic reaction	Il13	16163	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10923	sickle cell anemia Aliases: Hb SC disease Hb-S/Hb-C disease Hb-SS disease without crisis Hemoglobin S disease without crisis Sickle-cell/Hb-C disease without crisis drepanocytosis haemoglobin SC disease hemoglobin SC disease sickle cell anaemia	Apob C3 Cd36 Cd40lg Cfb Cyp2c29 F2 F3 Gpx1 H2-Ab1 Hk1 Nos3 Pecam1 Pgf Pon1 Spta1 Tgfb1 Tnf	12266 12491 13095 14061 14066 14775 14961 14962 15275 18127 18613 18654 18979 20739 21803 21926 21947 238055	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12351	alcoholic hepatitis Aliases: acute alcoholic hepatitis acute alcoholic liver disease	Abcb11 Ccl2 Col1a1 Cpt1a Ddr1 Fas Icam1 Il13 Nfkb1 Ppara Slc10a1 Srebf1 Tnf	12305 12842 12894 14102 15894 16163 18033 19013 20296 20493 20787 21926 27413	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060773	cleft lip-palate-ectodermal dysplasia syndrome Aliases: CLPED1 Margarita type of ectodermal dysplasia Zlotogora-Zilberman-Tenenbaum syndrome cleft lip/palate-syndactyly-pili torti syndrome syndactyly-ectodermal dysplasia-cleft/lip palate	Nectin1	58235	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:841	extrinsic allergic alveolitis Aliases: alveolitis hypersensitivity pneumonitis	Ace Cxcl9 Cxcr3 Il13 Tnc Tnf Tnfrsf1a Tnfrsf1b Vegfa	11421 12766 16163 17329 21923 21926 21937 21938 22339	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112214	developmental and epileptic encephalopathy 78 Aliases: DEE78 early infantile epileptic encephalopathy 78	Gabra2	14395	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10584	retinitis pigmentosa Aliases: pericentral pigmentary retinopathy	Abca4 Aifm1 Bcan Car4 Ccdc66 Clrn1 Cnga1 Crb1 Crb2 Fgfr2 Grin2b Gucy2e Hgf Hk1 Hkdc1 Impg1 Kl Mfrp Ngf Ofd1 Opn4 Pomgnt1 Prpf8 Prph2 Prps1 Rho Rpgr Serpinf1 Slc6a6 Snrnp200 Sod1 Tulp1 Ush2a Vegfa	11304 12032 12351 12788 14183 14812 14919 15234 15275 16591 170788 18049 19133 19139 192159 19893 20317 20655 212541 21366 216019 22157 22283 22339 229320 237222 241324 259172 26926 30044 320234 320632 63859 68273	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050864	non-arteritic anterior ischemic optic neuropathy Aliases: non-arteritic anterior ischaemic optic neuropathy nonarteritic anterior ischaemic optic neuropathy nonarteritic anterior ischemic optic neuropathy	Ace F5 Gp1ba Itgb3	11421 14067 14723 16416	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:896	metal metabolism disorder Aliases: inborn metal metabolism disorder	Atp7a	11977	Mus musculus (house mouse)	Alliance of Genome Resources

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